Supplementary Material for: A Revised Genome Assembly of the Region 5′ to Canine <b><i>SOX9</i></b> Includes the <b><i>RevSex</i></b> Orthologous Region

The <i>SOX</i> gene family includes many genes that play a determinant role in several developmental pathways. The <i>SOX9</i> gene has been identified as a major factor in testis development in mammals after it is activated by the <i>SRY</i> gene. However, duplication of the gene itself in some mammalian species, or of a well-delimited upstream ‘<i>RevSex'</i> region in humans, has been shown to result in testis development in the absence of the <i>SRY</i> gene. In the current study, we present an accurate analysis of the genomic organization of the <i>SOX9</i> locus in dogs by both in silico and FISH approaches. Contrary to what is observed in the current dog genome assembly, we found that the genomic organization is quite similar to that reported in humans and other mammalian species, including the position of the <i>RevSex</i> region in respect to <i>SOX9</i>. The analysis of the conserved sequences within this region in 7 mammalian species facilitated the highlighting of a consensus sequence for SRY binding. This new information could help in the identification of evolutionarily conserved elements relevant for <i>SOX9</i> gene regulation, and could provide valid targets for mutation analysis in XY DSD patients.




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